1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. PPP2R2B
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: PPP2R2B

Red List (low evidence)
PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta)
EnsemblGeneIds (GRCh38): ENSG00000156475
EnsemblGeneIds (GRCh37): ENSG00000156475
OMIM: 604325, Gene2Phenotype
PPP2R2B is in 14 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoted from Amber to Red, this review is for the STR entity and not the gene entity
Created: 10 Nov 2021, 5:52 p.m. | Last Modified: 10 Nov 2021, 5:52 p.m.
Panel Version: 1.192
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 10 Nov 2021, 5:51 p.m. | Last Modified: 10 Nov 2021, 5:51 p.m.
Panel Version: 1.191
Created: 10 Nov 2021, 5:51 p.m.
Last Modified: 10 Nov 2021, 5:51 p.m.
Panel version: 1.191

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

10 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PPP2R2B were changed from Spinocerebellar ataxia 12, 604326 to Spinocerebellar ataxia 12, OMIM:604326

10 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ppp2r2b has been classified as Red List (Low Evidence).

10 Nov 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PPP2R2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other

10 Nov 2021, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B. Tag currently-ngs-unreportable tag was added to gene: PPP2R2B.

8 Dec 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PPP2R2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PPP2R2B were changed from to Spinocerebellar ataxia 12, 604326

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: PPP2R2B was added gene: PPP2R2B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: PPP2R2B was set to